{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA342444",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 52,
          "referenceAllele": "F",
          "start": 51
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001713",
      "geneNCBI_id": 146059,
      "geneSymbol": "CDAN1",
      "hgvs": [
        "NP_612486.2:p.Phe52Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA342443",
          "hgvs": "NM_138477.4:c.156C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA392060811",
          "hgvs": "NM_138477.4:c.156C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA392060832",
          "hgvs": "NM_138477.4:c.154T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181281"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=34598[alleleid]",
        "alleleId": 34598,
        "preferredName": "NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21746",
        "RCV": [
          "RCV000483236",
          "RCV001807737"
        ],
        "variationId": 21746
      }
    ]
  },
  "type": "amino-acid"
}